ClinVar Miner

List of variants in gene HNF1A reported by ITMI

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_000545.8(HNF1A):c.1623+29T>C rs1169304 0.75160
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_000545.8(HNF1A):c.1501+7G>A rs2464195 0.30441
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.26206
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) rs1800574 0.02065
NM_000545.8(HNF1A):c.1309+52C>T rs56031130 0.00583
NM_000545.8(HNF1A):c.252C>T (p.Pro84=) rs78772552 0.00215
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val) rs115080759 0.00198
NM_000545.8(HNF1A):c.210C>T (p.Ser70=) rs146686581 0.00061
NM_000545.8(HNF1A):c.1309+187T>A rs184963118 0.00044
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys) rs140491072 0.00041
NM_000545.8(HNF1A):c.1623+23C>T rs201167179 0.00019
NM_000545.8(HNF1A):c.1624-30C>T rs563879035 0.00019
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) rs587778397 0.00016
NM_000545.8(HNF1A):c.225C>T (p.Asp75=) rs202180554 0.00009
NM_000545.8(HNF1A):c.1309+247G>A rs587777934 0.00008
NM_000545.8(HNF1A):c.341G>A (p.Arg114His) rs139016696 0.00007
NM_000545.8(HNF1A):c.1729C>G (p.His577Asp) rs376832928 0.00006
NM_000545.8(HNF1A):c.1624-29G>A rs532689884 0.00005
NM_000545.8(HNF1A):c.1309+238G>A rs564888406 0.00001
NM_000545.8(HNF1A):c.557T>C (p.Ile186Thr) rs587778396 0.00001
NM_000545.8(HNF1A):c.1309+184dup rs201039488
NM_000545.8(HNF1A):c.1309+86TCAT[5] rs58371019
NM_000545.8(HNF1A):c.1309+86TCAT[6] rs58371019
NM_000545.8(HNF1A):c.1309+86TCAT[7] rs58371019
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala) rs587778393
NM_000545.8(HNF1A):c.1733del (p.Leu578fs) rs1592898227
NM_000545.8(HNF1A):c.73G>A (p.Ala25Thr) rs587778394

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